DISEASES

Disease-gene associations mined from literature

Literature associating LPIN1 and nemaline myopathy 1

LPIN1 [ENSP00000397908]

Phosphatidate phosphatase LPIN1; Plays important roles in controlling the metabolism of fatty acids at different levels. Acts as a magnesium-dependent phosphatidate phosphatase enzyme which catalyzes the conversion of phosphatidic acid to diacylglycerol during triglyceride, phosphatidylcholine and phosphatidylethanolamine biosynthesis in the reticulum endoplasmic membrane. Acts also as a nuclear transcriptional coactivator for PPARGC1A/PPARA to modulate lipid metabolism gene expression (By similarity). Is involved in adipocyte differentiation. May also be involved in mitochondrial fission by converting phosphatidic acid to diacylglycerol (By similarity); Lipins

Synonyms:  LPIN1,  LPIN1p,  hLPIN1,  C9IYP2,  C9J278 ...

Linkouts:  STRING  Pharos  UniProt